Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2872+1G>T	p.?	Intron 21	Splice site	Disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	Unknown	Hydrocephalus, Spastic paraplegia		Claes et al. (1998)

Year	Author	Title	Journal	Volume	Pages	Weblink
1998	Claes et al.	Hydrocephalus and spastic paraplegia result from a donor splice site mutation (287+1GtoA) in the L1CAM gene in a Venezuelan pedigree	Hum. Mutat.	Suppl 1	S240-S241	9452098